Deleterious BLM Gene Mutation

Preferred Label : Deleterious BLM Gene Mutation;

NCIt synonyms : Deleterious RECQ2 Gene Mutation; Deleterious RECQL2 Gene Mutation; Deleterious RECQL3 Gene Mutation; Deleterious Bloom Syndrome Gene Mutation; Deleterious BS Gene Mutation; Deleterious BLM Mutation;

NCIt definition : A change in the nucleotide sequence of the BLM gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL1405446;

Details

Origin ID

C171074;

UMLS CUI

C5401127;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- BLM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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